Phenotype #0000352818

Individual ID	00467607
Associated disease	?
Diagnosis/Initial	Rett syndrome
Diagnosis/Definite	ALAZS
Phenotype details	see paper; ..., severe intellectual disability, no speech; severe growth retardation, disproportionate mild microcephaly; no triangular face; no prominent forehead; no narrow/hort palpebral fissures; no deep-set eyes; no sparse eyebrows; no low set ears; malar hypoplasia; broad nose; no short philtrum; wide mouth; full lips; widely spaced teeth/tooth misalignment; no scoliosis; no hypermobility of distal tips; abnormally set toe(s)/fingers; skeletal anomalies; thickened skin over the hands and feet; cutis marmorata; no anxiety; no self-mutilation of hands; stereotypic behavior including hand wringing; selective eating behavior; no seizures; keratoconus; no strabismus; atrial septal defect; disturbed sleep/sleep apnea episodes
Inheritance	Familial, autosomal recessive
Age/Examination	22y (22 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-10-23 22:07:26 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD